Variant: rs119473033 

    present in Gene: SMARCAL1
    present in Chromosome: 2
    Position on Chromosome: 216478216
    Alleles of this Variant: G/T

rs119473033 in SMARCAL1 gene and Nephrotic Syndrome PMID 11799392 2002 Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

PMID 18805831 2009 Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

PMID 24589093 2014 A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).

rs119473033 in SMARCAL1 gene and Schimke immunoosseous dysplasia PMID 22998683 2012 Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

PMID 11799392 2002 Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

PMID 21914180 2011 Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.

PMID 28796785 2017 Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

PMID 16840568 2007 Schimke immuno-osseous dysplasia: a clinicopathological correlation.

PMID 17089404 2007 Schimke immunoosseous dysplasia: suggestions of genetic diversity.

PMID 26499378 2015 Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

PMID 15880370 2005 Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.

PMID 19127206 2009 SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome.

PMID 18805831 2009 Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

PMID 24589093 2014 A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD).